Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

ABSTRACT:

Background

Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community.

Methods

The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000-2016, and a cohort of BC (n = 4384) and OC (n = 561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall surviv

SUBMITTER: Ruiz de Sabando A 

PROVIDER: S-EPMC6880350 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature